David, Albert

Top Publications

Top Publications Authored or Co-Authored by "David, Albert"

• TCTN3 mutations cause Mohr-Majewski syndrome

  American Journal of Human Genetics, Volume 91, No. 2, Year 2012, Citations 137
• Treacher Collins syndrome: A clinical and molecular study based on a large series of patients

  Genetics in Medicine, Volume 18, No. 1, Year 2016, Citations 119
• Mutations in FAM111b cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

  American Journal of Human Genetics, Volume 93, No. 6, Year 2013, Citations 81
• Phenotypic spectrum of simpson-golabi-behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

  American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Volume 163, No. 2, Year 2013, Citations 76
• A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

  American Journal of Medical Genetics, Part A, Volume 167, No. 3, Year 2015, Citations 70